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Test ID DRPL Dentatorubral-Pallidoluysian Atrophy (DRPLA) Gene Analysis, Varies

Useful For

Molecular confirmation of a diagnosis of dentatorubral-pallidoluysian atrophy (DRPLA) for symptomatic patients

 

Predictive testing for individuals with a family history of DRPLA and a documented expansion in the ATN1 gene in an affected family member

Method Name

Polymerase Chain Reaction (PCR)

Reporting Name

DRPLA Gene Analysis

Specimen Type

Varies


Shipping Instructions


Specimen preferred to arrive within 96 hours of draw.



Specimen Required


Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

Specimen Type: Whole blood

Container/Tube:

Preferred: Lavender top (EDTA) or yellow top (ACD)

Acceptable: Any anticoagulant

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube.


Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Ambient (preferred)
  Frozen 
  Refrigerated 

Reference Values

Normal alleles: 7-35 CAG repeats

Abnormal alleles: 49-93 CAG repeats

An interpretive report will be provided.

Day(s) and Time(s) Performed

Tuesday; 2 p.m.

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

81177-ATN1 (ataxin 2) (eg, denatatorubral-pallidolyuysian atrophy) gene analysis, evaluation to detect abnormal (eg, expanded) alleles

LOINC Code Information

Test ID Test Order Name Order LOINC Value
DRPL DRPLA Gene Analysis In Process

 

Result ID Test Result Name Result LOINC Value
53234 Result Summary 50397-9
53235 Result 49631-5
53236 Interpretation 69047-9
53237 Specimen 31208-2
53238 Source 31208-2
53239 Released By 18771-6

NY State Approved

Yes

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:

-Informed Consent for Genetic Testing  (T576)

-Informed Consent for Genetic Testing (Spanish)  (T826)

2. Molecular Genetics: Neurology Patient Information in Special Instructions.

3. If not ordering electronically, complete, print, and send a Neurology Specialty Testing Client Test Request (T732) with the specimen.